Canonical Allele Identifier: CA381447709
Gene: ACTN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66560669A>C , CM000673.2:g.66560669A>C GRCh38
NC_000011.9:g.66328140A>C , CM000673.1:g.66328140A>C GRCh37
NC_000011.8:g.66084716A>C NCBI36
NG_013304.2:g.18750A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000513398.2:c.1774A>C MANE Select ENSP00000426797.1:p.Ile592Leu
ENST00000502692.5:c.1903A>C ENSP00000422007.1:p.Ile635Leu
ENST00000513398.1:c.1774A>C ENSP00000426797.1:p.Ile592Leu
NM_001104.3:c.1774A>C NP_001095.2:p.Ile592Leu
NM_001258371.2:c.1903A>C NP_001245300.2:p.Ile635Leu
NM_001104.4:c.1774A>C MANE Select NP_001095.2:p.Ile592Leu
NM_001258371.3:c.1903A>C NP_001245300.2:p.Ile635Leu